Mutagenetix > Incidental Mutation

Incidental Mutation 'R9354:Cenpf'

708244

Institutional Source

Beutler Lab

Gene Symbol

Cenpf

Ensembl Gene

ENSMUSG00000026605

Gene Name

centromere protein F

Synonyms

6530404A22Rik, mitosin, Lek1

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.536) question?

Stock #

R9354 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

189372803-189420283 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 189379114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 45 (T45I)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171929]

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000132430
Gene: ENSMUSG00000026605
AA Change: T45I

Domain	Start	End	E-Value	Type
Pfam:CENP-F_C_Rb_bdg	23	50	1.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171929
AA Change: T2892I

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000129738
Gene: ENSMUSG00000026605
AA Change: T2892I

Domain	Start	End	E-Value	Type
Pfam:CENP-F_N	1	300	2.8e-144	PFAM
low complexity region	349	364	N/A	INTRINSIC
low complexity region	378	396	N/A	INTRINSIC
low complexity region	544	557	N/A	INTRINSIC
low complexity region	589	609	N/A	INTRINSIC
internal_repeat_5	678	707	8.32e-5	PROSPERO
internal_repeat_3	743	798	2.21e-5	PROSPERO
internal_repeat_1	780	812	2.12e-7	PROSPERO
coiled coil region	829	881	N/A	INTRINSIC
coiled coil region	902	1169	N/A	INTRINSIC
coiled coil region	1206	1364	N/A	INTRINSIC
internal_repeat_2	1381	1413	3.02e-6	PROSPERO
internal_repeat_3	1412	1470	2.21e-5	PROSPERO
low complexity region	1526	1542	N/A	INTRINSIC
coiled coil region	1560	1650	N/A	INTRINSIC
internal_repeat_2	1655	1687	3.02e-6	PROSPERO
low complexity region	1744	1755	N/A	INTRINSIC
coiled coil region	1822	1852	N/A	INTRINSIC
Pfam:CENP-F_leu_zip	1893	2035	1.2e-14	PFAM
Pfam:CENP-F_leu_zip	2131	2270	1.5e-47	PFAM
Pfam:CENP-F_leu_zip	2313	2449	1e-46	PFAM
low complexity region	2544	2555	N/A	INTRINSIC
low complexity region	2642	2654	N/A	INTRINSIC
low complexity region	2755	2769	N/A	INTRINSIC
internal_repeat_4	2778	2801	4.28e-5	PROSPERO
low complexity region	2837	2847	N/A	INTRINSIC
Pfam:CENP-F_C_Rb_bdg	2850	2896	6.6e-29	PFAM
internal_repeat_1	2935	2964	2.12e-7	PROSPERO
internal_repeat_4	2946	2969	4.28e-5	PROSPERO

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association through early anaphase. It localizes to the spindle midzone and the intracellular bridge in late anaphase and telophase, respectively, and is thought to be subsequently degraded. The localization of this protein suggests that it may play a role in chromosome segregation during mitotis. It is thought to form either a homodimer or heterodimer. Autoantibodies against this protein have been found in patients with cancer or graft versus host disease. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,436,873 (GRCm39)	Q181R	unknown	Het
Acsl1	T	G	8: 46,966,753 (GRCm39)	C242G	probably benign	Het
Agap2	A	C	10: 126,923,104 (GRCm39)	N646T	unknown	Het
Ankrd44	A	T	1: 54,687,438 (GRCm39)	*994R	probably null	Het
Apol7c	C	T	15: 77,410,112 (GRCm39)	R278H	possibly damaging	Het
Birc6	A	G	17: 74,921,401 (GRCm39)	E2166G	probably benign	Het
Caskin2	G	A	11: 115,693,468 (GRCm39)	T528M	probably damaging	Het
Ccdc30	G	T	4: 119,230,850 (GRCm39)	P15Q	possibly damaging	Het
Cemip2	A	G	19: 21,779,389 (GRCm39)	S400G	probably benign	Het
Cep68	T	C	11: 20,188,569 (GRCm39)	E612G	probably damaging	Het
Chpf2	T	C	5: 24,796,392 (GRCm39)	L446P	probably damaging	Het
Ctsl	A	T	13: 64,516,850 (GRCm39)	Y40N	probably damaging	Het
Dis3l	T	C	9: 64,221,922 (GRCm39)	N496S	probably benign	Het
Espnl	A	T	1: 91,272,323 (GRCm39)	D561V	probably benign	Het
Flnb	T	A	14: 7,818,411 (GRCm38)	L87Q	probably benign	Het
Gbp9	T	A	5: 105,232,825 (GRCm39)	I276F	possibly damaging	Het
Gid4	G	T	11: 60,308,618 (GRCm39)	R46L	probably benign	Het
Gper1	G	A	5: 139,412,029 (GRCm39)	D125N	possibly damaging	Het
Gpr146	A	G	5: 139,378,366 (GRCm39)	N56S	probably benign	Het
Grhpr	G	T	4: 44,981,465 (GRCm39)	R5L	probably benign	Het
Gstm6	A	T	3: 107,850,018 (GRCm39)	N59K	probably damaging	Het
Hdac7	A	T	15: 97,694,769 (GRCm39)	F802L	probably damaging	Het
Igfbpl1	A	T	4: 45,816,348 (GRCm39)	V159D	probably damaging	Het
Itga8	T	C	2: 12,237,668 (GRCm39)	S351G	possibly damaging	Het
Itgad	C	A	7: 127,785,146 (GRCm39)	H354Q	probably damaging	Het
Jmjd1c	T	C	10: 67,059,875 (GRCm39)	S641P	probably damaging	Het
Klhl33	T	C	14: 51,130,385 (GRCm39)	T110A	probably benign	Het
Lcorl	T	A	5: 45,890,968 (GRCm39)	K545*	probably null	Het
Lilra6	A	G	7: 3,914,628 (GRCm39)	S546P	probably damaging	Het
Ly6c1	T	A	15: 74,916,471 (GRCm39)	I124F	probably benign	Het
Map4	A	G	9: 109,897,847 (GRCm39)	T858A	probably benign	Het
Marchf5	G	T	19: 37,185,264 (GRCm39)		probably benign	Het
Muc2	A	G	7: 141,307,157 (GRCm39)	K769E		Het
Myh6	T	A	14: 55,200,992 (GRCm39)	I157F	probably damaging	Het
Naip1	A	G	13: 100,563,994 (GRCm39)	V389A	probably benign	Het
Or52b3	G	A	7: 102,204,397 (GRCm39)	R302H	possibly damaging	Het
Pcdhgc4	A	G	18: 37,949,640 (GRCm39)	H352R	probably benign	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Pick1	T	C	15: 79,123,848 (GRCm39)	V73A	probably damaging	Het
Ppwd1	C	T	13: 104,342,080 (GRCm39)	V625I	probably benign	Het
Prss59	A	G	6: 40,905,473 (GRCm39)	V61A	probably damaging	Het
Prune2	A	G	19: 17,099,986 (GRCm39)	E1830G	probably benign	Het
Ralgapb	A	G	2: 158,279,313 (GRCm39)	N445S	possibly damaging	Het
Rapgef6	G	T	11: 54,510,749 (GRCm39)	R222L	possibly damaging	Het
Rorc	A	T	3: 94,280,170 (GRCm39)		probably benign	Het
Rps6ka1	A	C	4: 133,594,432 (GRCm39)		probably null	Het
Sdk2	T	C	11: 113,725,757 (GRCm39)	Y1164C	probably benign	Het
Sema5a	T	A	15: 32,562,902 (GRCm39)	Y304*	probably null	Het
Slc26a4	A	T	12: 31,585,255 (GRCm39)	V513D	possibly damaging	Het
Slf2	T	A	19: 44,936,471 (GRCm39)	D705E	probably damaging	Het
Spag17	A	G	3: 99,934,905 (GRCm39)	T704A	probably benign	Het
Tex15	C	G	8: 34,063,344 (GRCm39)	Q925E	possibly damaging	Het
Trim38	A	T	13: 23,969,875 (GRCm39)	T145S	probably benign	Het
Trpm3	G	A	19: 22,425,696 (GRCm39)	C17Y	probably benign	Het
Usp42	A	G	5: 143,701,027 (GRCm39)	Y999H	probably benign	Het
Vat1	A	C	11: 101,351,441 (GRCm39)	M300R	probably benign	Het
Vmn1r85	T	A	7: 12,818,725 (GRCm39)	I140F	probably damaging	Het
Vmn2r57	T	C	7: 41,049,663 (GRCm39)	I695M	probably benign	Het
Wnk1	C	T	6: 119,942,660 (GRCm39)	R789Q	unknown	Het
Zswim5	G	A	4: 116,844,232 (GRCm39)	G1090D	probably damaging	Het

Other mutations in Cenpf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Cenpf	APN	1	189,387,109 (GRCm39)	missense	probably benign	0.01
IGL01154:Cenpf	APN	1	189,412,530 (GRCm39)	missense	probably benign	0.19
IGL01434:Cenpf	APN	1	189,390,065 (GRCm39)	nonsense	probably null
IGL01461:Cenpf	APN	1	189,389,293 (GRCm39)	missense	probably damaging	1.00
IGL01615:Cenpf	APN	1	189,385,381 (GRCm39)	missense	possibly damaging	0.68
IGL01720:Cenpf	APN	1	189,383,412 (GRCm39)	missense	probably damaging	0.99
IGL01720:Cenpf	APN	1	189,414,583 (GRCm39)	missense	probably benign	0.05
IGL01803:Cenpf	APN	1	189,386,968 (GRCm39)	nonsense	probably null
IGL02152:Cenpf	APN	1	189,381,209 (GRCm39)	missense	probably benign
IGL02222:Cenpf	APN	1	189,386,641 (GRCm39)	missense	probably benign
IGL02338:Cenpf	APN	1	189,412,615 (GRCm39)	missense	probably damaging	1.00
IGL02580:Cenpf	APN	1	189,389,638 (GRCm39)	missense	probably benign	0.20
IGL02629:Cenpf	APN	1	189,384,531 (GRCm39)	missense	probably damaging	1.00
IGL02650:Cenpf	APN	1	189,384,670 (GRCm39)	missense	possibly damaging	0.91
IGL02660:Cenpf	APN	1	189,386,979 (GRCm39)	missense	probably damaging	1.00
IGL02703:Cenpf	APN	1	189,391,955 (GRCm39)	missense	probably benign	0.14
IGL02809:Cenpf	APN	1	189,414,555 (GRCm39)	splice site	probably benign
IGL02851:Cenpf	APN	1	189,390,227 (GRCm39)	missense	probably damaging	1.00
IGL02903:Cenpf	APN	1	189,379,073 (GRCm39)	missense	probably damaging	0.99
IGL03126:Cenpf	APN	1	189,391,207 (GRCm39)	missense	probably damaging	1.00
IGL03235:Cenpf	APN	1	189,416,124 (GRCm39)	missense	probably damaging	1.00
IGL03336:Cenpf	APN	1	189,384,844 (GRCm39)	missense	probably damaging	0.99
IGL03402:Cenpf	APN	1	189,387,273 (GRCm39)	missense	probably damaging	1.00
IGL02799:Cenpf	UTSW	1	189,391,849 (GRCm39)	missense	probably damaging	1.00
R0011:Cenpf	UTSW	1	189,382,903 (GRCm39)	missense	probably benign	0.05
R0129:Cenpf	UTSW	1	189,391,847 (GRCm39)	missense	probably benign	0.26
R0157:Cenpf	UTSW	1	189,384,556 (GRCm39)	missense	probably benign	0.07
R0270:Cenpf	UTSW	1	189,382,911 (GRCm39)	missense	probably benign	0.01
R0607:Cenpf	UTSW	1	189,414,660 (GRCm39)	splice site	probably null
R0621:Cenpf	UTSW	1	189,404,825 (GRCm39)	missense	probably benign
R0639:Cenpf	UTSW	1	189,390,259 (GRCm39)	missense	probably benign	0.01
R0653:Cenpf	UTSW	1	189,392,183 (GRCm39)	missense	probably damaging	1.00
R0718:Cenpf	UTSW	1	189,386,181 (GRCm39)	missense	probably damaging	1.00
R1157:Cenpf	UTSW	1	189,390,650 (GRCm39)	missense	probably benign	0.20
R1331:Cenpf	UTSW	1	189,374,998 (GRCm39)	missense	probably damaging	0.99
R1463:Cenpf	UTSW	1	189,386,936 (GRCm39)	missense	probably damaging	0.97
R1514:Cenpf	UTSW	1	189,411,338 (GRCm39)	missense	possibly damaging	0.67
R1529:Cenpf	UTSW	1	189,392,235 (GRCm39)	missense	probably benign	0.00
R1574:Cenpf	UTSW	1	189,384,910 (GRCm39)	missense	probably damaging	1.00
R1574:Cenpf	UTSW	1	189,384,910 (GRCm39)	missense	probably damaging	1.00
R1662:Cenpf	UTSW	1	189,389,968 (GRCm39)	missense	probably damaging	0.99
R1671:Cenpf	UTSW	1	189,411,341 (GRCm39)	splice site	probably null
R1725:Cenpf	UTSW	1	189,412,676 (GRCm39)	missense	probably damaging	0.99
R1743:Cenpf	UTSW	1	189,386,460 (GRCm39)	missense	probably benign	0.19
R1874:Cenpf	UTSW	1	189,416,013 (GRCm39)	missense	probably damaging	1.00
R1884:Cenpf	UTSW	1	189,379,046 (GRCm39)	missense	probably benign
R1980:Cenpf	UTSW	1	189,386,112 (GRCm39)	missense	probably benign	0.04
R2074:Cenpf	UTSW	1	189,389,098 (GRCm39)	missense	probably damaging	1.00
R2096:Cenpf	UTSW	1	189,385,656 (GRCm39)	missense	possibly damaging	0.95
R2109:Cenpf	UTSW	1	189,411,264 (GRCm39)	missense	probably damaging	0.99
R2113:Cenpf	UTSW	1	189,411,299 (GRCm39)	missense	probably damaging	0.96
R2134:Cenpf	UTSW	1	189,390,839 (GRCm39)	missense	probably benign	0.03
R2209:Cenpf	UTSW	1	189,384,795 (GRCm39)	missense	probably benign	0.04
R2875:Cenpf	UTSW	1	189,390,841 (GRCm39)	missense	probably benign	0.11
R2876:Cenpf	UTSW	1	189,390,841 (GRCm39)	missense	probably benign	0.11
R3433:Cenpf	UTSW	1	189,392,146 (GRCm39)	missense	probably damaging	0.99
R3709:Cenpf	UTSW	1	189,381,009 (GRCm39)	missense	possibly damaging	0.72
R3786:Cenpf	UTSW	1	189,390,534 (GRCm39)	missense	probably damaging	1.00
R4014:Cenpf	UTSW	1	189,385,356 (GRCm39)	missense	probably benign	0.01
R4108:Cenpf	UTSW	1	189,416,065 (GRCm39)	missense	probably damaging	1.00
R4119:Cenpf	UTSW	1	189,385,242 (GRCm39)	missense	probably benign	0.01
R4177:Cenpf	UTSW	1	189,400,816 (GRCm39)	missense	possibly damaging	0.95
R4422:Cenpf	UTSW	1	189,390,547 (GRCm39)	missense	probably damaging	1.00
R4546:Cenpf	UTSW	1	189,386,847 (GRCm39)	missense	probably damaging	1.00
R4592:Cenpf	UTSW	1	189,411,230 (GRCm39)	missense	probably damaging	1.00
R4643:Cenpf	UTSW	1	189,391,786 (GRCm39)	missense	probably benign	0.00
R4650:Cenpf	UTSW	1	189,392,235 (GRCm39)	missense	probably benign	0.00
R4801:Cenpf	UTSW	1	189,383,417 (GRCm39)	missense	probably damaging	1.00
R4802:Cenpf	UTSW	1	189,383,417 (GRCm39)	missense	probably damaging	1.00
R4817:Cenpf	UTSW	1	189,414,566 (GRCm39)	missense	possibly damaging	0.93
R4871:Cenpf	UTSW	1	189,390,728 (GRCm39)	missense	probably damaging	1.00
R5037:Cenpf	UTSW	1	189,416,043 (GRCm39)	missense	probably damaging	1.00
R5106:Cenpf	UTSW	1	189,416,005 (GRCm39)	missense	probably benign	0.00
R5208:Cenpf	UTSW	1	189,403,243 (GRCm39)	critical splice donor site	probably null
R5213:Cenpf	UTSW	1	189,387,177 (GRCm39)	missense	probably benign	0.04
R5237:Cenpf	UTSW	1	189,391,730 (GRCm39)	missense	probably benign	0.28
R5255:Cenpf	UTSW	1	189,404,824 (GRCm39)	missense	possibly damaging	0.49
R5378:Cenpf	UTSW	1	189,385,663 (GRCm39)	missense	possibly damaging	0.95
R5468:Cenpf	UTSW	1	189,384,568 (GRCm39)	missense	probably damaging	1.00
R5510:Cenpf	UTSW	1	189,415,100 (GRCm39)	missense	probably benign	0.14
R5616:Cenpf	UTSW	1	189,389,483 (GRCm39)	missense	probably damaging	1.00
R5652:Cenpf	UTSW	1	189,389,279 (GRCm39)	missense	probably damaging	0.99
R5735:Cenpf	UTSW	1	189,386,560 (GRCm39)	missense	probably benign	0.10
R5841:Cenpf	UTSW	1	189,389,641 (GRCm39)	missense	possibly damaging	0.90
R5943:Cenpf	UTSW	1	189,392,166 (GRCm39)	missense	possibly damaging	0.75
R6082:Cenpf	UTSW	1	189,390,301 (GRCm39)	missense	probably benign	0.11
R6108:Cenpf	UTSW	1	189,394,210 (GRCm39)	missense	probably benign	0.03
R6269:Cenpf	UTSW	1	189,392,117 (GRCm39)	missense	probably benign	0.37
R6284:Cenpf	UTSW	1	189,384,939 (GRCm39)	missense	probably damaging	1.00
R6425:Cenpf	UTSW	1	189,392,095 (GRCm39)	missense	probably benign	0.09
R6587:Cenpf	UTSW	1	189,390,571 (GRCm39)	missense	probably damaging	1.00
R6747:Cenpf	UTSW	1	189,385,051 (GRCm39)	missense	probably benign	0.15
R6811:Cenpf	UTSW	1	189,386,739 (GRCm39)	missense	probably benign	0.06
R6834:Cenpf	UTSW	1	189,391,643 (GRCm39)	missense	probably damaging	1.00
R6951:Cenpf	UTSW	1	189,385,989 (GRCm39)	missense	probably damaging	1.00
R7095:Cenpf	UTSW	1	189,391,373 (GRCm39)	missense	probably benign	0.01
R7128:Cenpf	UTSW	1	189,417,188 (GRCm39)	missense	probably damaging	1.00
R7185:Cenpf	UTSW	1	189,385,686 (GRCm39)	missense	probably damaging	1.00
R7292:Cenpf	UTSW	1	189,382,891 (GRCm39)	missense	probably damaging	1.00
R7353:Cenpf	UTSW	1	189,386,335 (GRCm39)	nonsense	probably null
R7402:Cenpf	UTSW	1	189,391,575 (GRCm39)	nonsense	probably null
R7460:Cenpf	UTSW	1	189,386,247 (GRCm39)	missense	probably damaging	0.97
R7484:Cenpf	UTSW	1	189,389,018 (GRCm39)	missense	probably damaging	1.00
R7574:Cenpf	UTSW	1	189,390,864 (GRCm39)	missense	probably damaging	1.00
R7691:Cenpf	UTSW	1	189,390,404 (GRCm39)	nonsense	probably null
R7698:Cenpf	UTSW	1	189,394,269 (GRCm39)	missense	probably benign	0.01
R7901:Cenpf	UTSW	1	189,389,445 (GRCm39)	missense	probably damaging	1.00
R7941:Cenpf	UTSW	1	189,389,483 (GRCm39)	missense	probably damaging	1.00
R8007:Cenpf	UTSW	1	189,379,144 (GRCm39)	missense
R8194:Cenpf	UTSW	1	189,414,600 (GRCm39)	missense	probably benign	0.06
R8420:Cenpf	UTSW	1	189,404,782 (GRCm39)	missense	probably damaging	1.00
R8429:Cenpf	UTSW	1	189,389,504 (GRCm39)	missense	possibly damaging	0.72
R8477:Cenpf	UTSW	1	189,385,385 (GRCm39)	missense	probably benign
R8492:Cenpf	UTSW	1	189,390,926 (GRCm39)	missense	probably damaging	0.99
R8510:Cenpf	UTSW	1	189,382,903 (GRCm39)	missense	probably benign	0.01
R8686:Cenpf	UTSW	1	189,391,801 (GRCm39)	missense	probably benign	0.00
R8696:Cenpf	UTSW	1	189,390,194 (GRCm39)	missense	probably benign	0.20
R8855:Cenpf	UTSW	1	189,385,430 (GRCm39)	missense	probably benign	0.11
R8901:Cenpf	UTSW	1	189,394,248 (GRCm39)	missense	probably benign	0.30
R8958:Cenpf	UTSW	1	189,385,350 (GRCm39)	missense	possibly damaging	0.81
R9109:Cenpf	UTSW	1	189,391,571 (GRCm39)	missense	probably benign	0.06
R9135:Cenpf	UTSW	1	189,404,746 (GRCm39)	missense	probably damaging	1.00
R9136:Cenpf	UTSW	1	189,403,352 (GRCm39)	missense	probably benign	0.02
R9198:Cenpf	UTSW	1	189,388,987 (GRCm39)	missense	probably damaging	1.00
R9240:Cenpf	UTSW	1	189,389,167 (GRCm39)	missense	probably benign	0.01
R9303:Cenpf	UTSW	1	189,392,271 (GRCm39)	critical splice acceptor site	probably null
R9305:Cenpf	UTSW	1	189,392,271 (GRCm39)	critical splice acceptor site	probably null
R9502:Cenpf	UTSW	1	189,388,978 (GRCm39)	missense	probably damaging	1.00
R9619:Cenpf	UTSW	1	189,385,965 (GRCm39)	missense	probably benign	0.01
RF006:Cenpf	UTSW	1	189,389,583 (GRCm39)	missense	probably damaging	1.00
X0025:Cenpf	UTSW	1	189,386,071 (GRCm39)	missense	possibly damaging	0.79
X0066:Cenpf	UTSW	1	189,390,126 (GRCm39)	missense	probably benign	0.23
Z1088:Cenpf	UTSW	1	189,385,128 (GRCm39)	missense	probably damaging	1.00
Z1176:Cenpf	UTSW	1	189,391,669 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGCATCCTTGGACTTGC -3'
(R):5'- TTGTACCTGCATGCACAAAC -3'

Sequencing Primer
(F):5'- TGAGTCAGAGCCTGCCATAATATC -3'
(R):5'- TTGTACCTGCATGCACAAACATCTG -3'

Posted On

2022-04-18